Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study

BACKGROUND: Genetic tests for hereditary hearing loss inform clinical management of patients and can provide the first step in the development of therapeutics. However, comprehensive genetic tests for deafness genes by Sanger sequencing is extremely expensive and time-consuming. Next-generation sequ...

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Dades bibliogràfiques
Publicat a:Orphanet J Rare Dis
Autors principals: Mutai, Hideki, Suzuki, Naohiro, Shimizu, Atsushi, Torii, Chiharu, Namba, Kazunori, Morimoto, Noriko, Kudoh, Jun, Kaga, Kimitaka, Kosaki, Kenjiro, Matsunaga, Tatsuo
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2013
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4231469/
https://ncbi.nlm.nih.gov/pubmed/24164807
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-172
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